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Splitting the ATM: distinct repair and checkpoint defects in ataxia–telangiectasia

✍ Scribed by Penny A Jeggo; Antony M Carr; Alan R Lehmann

Book ID
114174076
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
174 KB
Volume
14
Category
Article
ISSN
0168-9525

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In patients affected by Ataxia-Telangiectasia (A-T), mutations in the ATM gene lead to lossof-function alleles. Nonsense, splice-site variants, small insertions or deletions (frameshifts) and missense are the most commonly found mutations. Large genomic deletions (LGDs) are rare (~1%) but can lead t